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BHD Research Blog is the official blog of BHDSyndrome.org, the primary online resource for anyone interested in Birt-Hogg-Dubé Syndrome, a rare genetic condition linked to benign skin growths, collapsed lung and kidney cancers. In the BHD Research Blog, we focus on analysing current research in BHD and related fields, as well as considering wider issues relating to rare diseases.
Last week, we launched the new patient information pages on the BHD Foundation website. The information has been rewritten with the principles of health literacy in mind, and we hope these will be of greater use to patients and their families. This week’s blog discusses a study which demonstrates the value of providing well-written patient information.
Tuberous Sclerosis Complex (TSC) is a paediatric genetic syndrome which causes tumours to form in the brain, eyes, heart, skin, lungs an........ Read more »
Samia P, Donald KA, Schlegel B, & Wilmshurst JM. (2014) Parental Understanding of Tuberous Sclerosis Complex. Journal of child neurology. PMID: 25414235
Lymphangioleiomyomatosis (LAM) is a cystic lung disease that predominantly affects women. Roughly 90% of cases are sporadic and are caused by somatic mutation of the TSC2 gene, but some patients develop LAM as part of the syndrome Tuberous Sclerosis Complex … Continue reading →... Read more »
Yeoh ZW, Navaratnam V, Bhatt R, McCafferty I, Hubbard RB, & Johnson SR. (2014) Natural history of angiomyolipoma in lymphangioleiomyomatosis: implications for screening and surveillance. Orphanet journal of rare diseases, 151. PMID: 25277108
Drug repurposing is predicated on the fact that many diseases are caused by the dysregulation of similar signaling pathways, or that drugs may affect several biological targets at once, meaning that a single drug may be able to treat multiple … Continue reading →... Read more »
Gramatica R, Di Matteo T, Giorgetti S, Barbiani M, Bevec D, & Aste T. (2014) Graph theory enables drug repurposing--how a mathematical model can drive the discovery of hidden mechanisms of action. PloS one, 9(1). PMID: 24416311
Radical nephrectomy is generally the preferred method to treat advanced kidney cancers, while partial nephrectomy is performed when the disease is localised, or if the patient has a genetic predisposition to developing kidney tumours. However, a recent study suggests that … Continue reading →... Read more »
Capitanio U, Terrone C, Antonelli A, Minervini A, Volpe A, Furlan M, Matloob R, Regis F, Fiori C, Porpiglia F.... (2014) Nephron-sparing Techniques Independently Decrease the Risk of Cardiovascular Events Relative to Radical Nephrectomy in Patients with a T1a-T1b Renal Mass and Normal Preoperative Renal Function. European urology. PMID: 25282367
In order to determine the characteristics of renal cell carcinomas (RCC) in BHD patients, Benusiglio et al. (2014) recruited 124 French BHD patients from Hôpital Bicêtre near Paris, and the Edouard Herriot University Hospital in Lyon. Of the patients recruited, … Continue reading →... Read more »
Benusiglio, P., Giraud, S., Deveaux, S., Méjean, A., Correas, J., Joly, D., Timsit, M., Ferlicot, S., Verkarre, V., Abadie, C.... (2014) Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet Journal of Rare Diseases, 9(1). DOI: 10.1186/s13023-014-0163-z
Invariant Natural Killer T (iNKT) cell development is highly regulated, starting at stage 0, where DP thermocytes become committed to the iNKT cell lineage, and ending as fully mature stage 3 iNKT cells, which are capable of illiciting an immune … Continue reading →... Read more »
Wu J, Yang J, Yang K, Wang H, Gorentla B, Shin J, Qiu Y, Que LG, Foster WM, Xia Z.... (2014) iNKT cells require TSC1 for terminal maturation and effector lineage fate decisions. The Journal of clinical investigation, 124(4), 1685-98. PMID: 24614103
Wu J, Shin J, Xie D, Wang H, Gao J, & Zhong XP. (2014) Tuberous sclerosis 1 promotes invariant NKT cell anergy and inhibits invariant NKT cell-mediated antitumor immunity. Journal of immunology (Baltimore, Md. : 1950), 192(6), 2643-50. PMID: 24532578
The majority of research on FLCN is within the context of BHD syndrome, which is caused by heterozygous germline mutations in the FLCN gene. However, two recent papers have reported that somatic FLCN mutations may be a factor in the … Continue reading →... Read more »
Sirintrapun SJ, Geisinger KR, Cimic A, Snow A, Hagenkord J, Monzon F, Legendre BL Jr, Ghazalpour A, Bender RP, & Gatalica Z. (2014) Oncocytoma-like renal tumor with transformation toward high-grade oncocytic carcinoma: a unique case with morphologic, immunohistochemical, and genomic characterization. Medicine, 93(15). PMID: 25275525
Wagle N, Grabiner BC, Van Allen EM, Amin-Mansour A, Taylor-Weiner A, Rosenberg M, Gray N, Barletta JA, Guo Y, Swanson SJ.... (2014) Response and acquired resistance to everolimus in anaplastic thyroid cancer. The New England journal of medicine, 371(15), 1426-33. PMID: 25295501
Although 90% of BHD patients develop lung cysts, there is very little information about the natural history of BHD lung cysts. In order to determine how lung cysts change over time, Johannesma et al. (2014a) compared the results of two … Continue reading →... Read more »
Johannesma PC, Houweling AC, van Waesberghe JH, van Moorselaar RJ, Starink TM, Menko FH, & Postmus PE. (2014) The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: A hypothesis. Respirology (Carlton, Vic.), 19(8), 1248-50. PMID: 25302759
Kidney cancer patients face a number of challenges, such as lack of awareness both by patients and their doctors, difficulty getting a diagnosis, limited access to treatment, inappropriate treatment, lack of information and lack of support. Given that there were … Continue reading →... Read more »
Giles RH, Maskens D, & the International Kidney Cancer Coalition. (2014) Amsterdam Patient Charter for Global Kidney Cancer Care. European urology. PMID: 25257033
In many cases, early diagnosis means treatments are more effective, cost less and save more lives. Screening programmes aid early diagnosis and can be used to screen whole populations, such as the fetal anomaly screening given to all pregnant women … Continue reading →... Read more »
Sauter JL, & Butnor KJ. (2014) Pathological findings in spontaneous pneumothorax specimens: does the incidence of unexpected clinically significant findings justify routine histological examination?. Histopathology. PMID: 25234592
Genetic anticipation describes the situation where younger generations of a family with a genetic disease develop symptoms at a younger age, develop more severe symptoms, or both. A study earlier this year showed that there is evidence of genetic anticipation … Continue reading →... Read more »
Ning XH, Zhang N, Li T, Wu PJ, Wang X, Li XY, Peng SH, Wang JY, Chen JC, & Gong K. (2014) Telomere shortening is associated with genetic anticipation in Chinese Von Hippel-Lindau disease families. Cancer research, 74(14), 3802-9. PMID: 24986515
One concern many BHD patients have is whether it is safe to take commercial flights, or whether this would increase the chances of a pneumothorax. A recently published study, by Professor Pieter Postmus and his team at the VU Medical … Continue reading →... Read more »
Postmus PE, Johannesma PC, Menko FH, & Paul MA. (2014) In-Flight Pneumothorax: Diagnosis May Be Missed because of Symptom Delay. American journal of respiratory and critical care medicine, 190(6), 704-5. PMID: 25221882
A cancer survivor is defined as anyone who is living with cancer, or whose cancer has gone into remission. Traditionally cancer care has concentrated on diagnosing and treating the disease, and comparatively little support has been given to patients once … Continue reading →... Read more »
Moretto P, Jewett MA, Basiuk J, Maskens D, & Canil CM. (2014) Kidney cancer survivorship survey of urologists and survivors: The gap in perceptions of care, but agreement on needs. Canadian Urological Association journal , 8(5-6), 190-4. PMID: 25024789
A number of studies have suggested that FLCN regulates autophagy, although precisely how was unknown. A recent study by Dr Elaine Dunlop and Dr Andy Tee from Cardiff University report that FLCN regulates autophagy through interactions with GABARAP and ULK1. … Continue reading →... Read more »
Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, Kemp AJ, Nookala RK, Blenis J, Coull BJ.... (2014) FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Autophagy, 10(10). PMID: 25126726
Whilst trying to elucidate the role of FLCN, a number of studies have reported opposing results. FLCN has been shown to both activate and inhibit mTOR signalling, AMPK signalling and RhoA signalling and to both potentiate and abrogate cell-cell adhesion. … Continue reading →... Read more »
Khabibullin D, Medvetz DA, Pinilla M, Hariharan V, Li C, Hergrueter A, Laucho Contreras M, Zhang E, Parkhitko A, Yu JJ.... (2014) Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. Physiological reports, 2(8). PMID: 25121506
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare kidney cancer susceptibility syndrome caused by autosomal dominant mutations in the FH gene. The three main symptoms of HLRCC are red skin papules called cutaneous piloleiomyomas; multiple early-onset uterine leiomyomas; … Continue reading →... Read more »
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, & Linehan WM. (2014) Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Familial cancer. PMID: 25012257
It is estimated that between 5 and 8% of kidney cancers are hereditary (Linehan et al., 2010). There are several clues that help clinicians diagnose these cases: patients who present with multifocal and/or bilateral tumours; who have a family history … Continue reading →... Read more »
Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, & Linehan WM. (2014) Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 32(5), 431-7. PMID: 24378414
In the UK, a significant amount of medical research funding – an estimated £2.9 billion in 2012/13 – comes from the public purse through taxes and charitable donations, or from the Wellcome Trust, so it is important to see whether … Continue reading →... Read more »
Glover M, Buxton M, Guthrie S, Hanney S, Pollitt A, & Grant J. (2014) Estimating the returns to UK publicly funded cancer-related research in terms of the net value of improved health outcomes. BMC medicine, 99. PMID: 24930803
Birt-Hogg-Dubé Syndrome is caused by inactivating mutations in the FLCN gene, characterised by skin lesions on the face and upper body; lung cysts and predisposition to pneumothorax; and kidney cancer. Although symptoms typically appear in the third and fourth decade … Continue reading →... Read more »
Johannesma PC, van den Borne BE, Gille JJ, Nagelkerke AF, van Waesberghe JT, Paul MA, van Moorselaar RJ, Menko FH, & Postmus PE. (2014) Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients. BMC pediatrics, 171. PMID: 24994497
Contrary to other hereditary kidney cancer conditions, BHD-associated renal tumours are known to be histologically diverse and discordant within families, meaning that members of the same family do not necessarily get the same type of kidney tumour (Pavlovich et al., … Continue reading →... Read more »
Kuroda N, Furuya M, Nagashima Y, Gotohda H, Moritani S, Kawakami F, Imamura Y, Bando Y, Takahashi M, Kanayama HO.... (2014) Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome. Annals of diagnostic pathology, 18(3), 171-6. PMID: 24767893
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